A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5573089



Internal ID21521487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:84691636..84691686hg38UCSC Ensembl
chr2:84918760..84918810hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg3851
hg1951
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17113782
SamplesNA19238
Known GenesDNAH6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5573089
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer